{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T02:12:32Z","timestamp":1772763152460,"version":"3.50.1"},"reference-count":13,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described.  Objective:  To study a new Portuguese family with these characteristics.   Method:  To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux.   Results:  Three of five siblings presented a similar history of paroxysmal cough (5th decade). About a decade later they experienced numbness and paraesthesia in the feets and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present.   Discussion:  Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect.<\/jats:p>","DOI":"10.1590\/0004-282x20140014","type":"journal-article","created":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T14:52:12Z","timestamp":1488898332000},"page":"269-272","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux"],"prefix":"10.1590","volume":"72","author":[{"given":"Pedro","family":"Barros","sequence":"first","affiliation":[{"name":"Centro Hospitalar Vila Nova de Gaia\/Espinho,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo","family":"Morais","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Vila Nova de Gaia\/Espinho,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catarina","family":"Santos","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Entre o Douro e Vouga,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Roriz","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Entre o Douro e Vouga,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Coutinho","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Entre o Douro e Vouga,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","series-title":"Peripheral Neuropathy","first-page":"1065","volume-title":"Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons","author":"Dyck 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